标题
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2
作者
关键词
-
出版物
BRAIN
Volume 137, Issue 1, Pages 44-56
出版商
Oxford University Press (OUP)
发表日期
2013-11-20
DOI
10.1093/brain/awt315
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease
- (2012) Janel O. Johnson et al. BRAIN
- Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome
- (2012) Tobias B. Haack et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Brown–Vialetto–van Laere and Fazio–Londe overlap syndromes: A clinical, biochemical and genetic study
- (2012) Marianna Ciccolella et al. NEUROMUSCULAR DISORDERS
- The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives
- (2012) Annet M Bosch et al. Orphanet Journal of Rare Diseases
- Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome
- (2011) GEETHA ANAND et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Riboflavin transporter is finally identified
- (2011) Y. Moriyama JOURNAL OF BIOCHEMISTRY
- The distal hereditary motor neuropathies
- (2011) Alexander M Rossor et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54
- (2010) Peter Green et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B
- (2010) Gladys Ho et al. HUMAN MUTATION
- Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment
- (2010) Annet M. Bosch et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Identification and Comparative Functional Characterization of a New Human Riboflavin Transporter hRFT3 Expressed in the Brain
- (2010) Yoshiaki Yao et al. JOURNAL OF NUTRITION
- Toxic Effects of Water-Soluble Vitamins
- (2010) Leslie Alhadeff et al. NUTRITION REVIEWS
- Mitochondrial fatty acid oxidation defects—remaining challenges
- (2008) Niels Gregersen et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Brown-Vialetto-Van Laere syndrome
- (2008) Sivakumar Sathasivam Orphanet Journal of Rare Diseases
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started